OBJECTIVE: To test whether the combined use of total plasma/serum bilirubin (TSB) levels and clinical risk factors more accurately identifies infants who receive phototherapy than does the use of either method alone. STUDY DESIGN: We recruited healthy infants of ≥35 weeks' gestation at 6 centers that practiced universal predischarge TSB ...

BACKGROUND: Information regarding recruitment of infants to research studies following the diagnosis of cystic fibrosis (CF) via newborn screening (NBS) is not currently available. This study aimed to assess parental attitudes and the feasibility of recruiting and retaining both NBS infants with CF and healthy control infants to a longitudinal, ...

OBJECTIVES. To clarify the use of ultrasonography by determining the frequency of developmental dysplasia of the hip among breech-presented Chinese neonates in Hong Kong. DESIGN. Prospective case series. SETTING. Regional hospital, Hong Kong. PATIENTS. All breech-presented Chinese neonates born during January 2008 to June 2009 were included (except premature neonates). ...

In Minnesota and other states, all newborns are screened for cystic fibrosis (CF). CF is a common genetic condition that affects the sinopulmonary, hepatobiliary and male urogenital systems. Cystic fibrosis is caused by mutations in both copies of the CF transmembrane conductance regulator (CFTR) gene. In Minnesota, infants who have ...

A nationwide screening test for congenital adrenal hyperplasia (CAH) was first initiated in Japan in 1989, over 20 years ago, and it is now 30 years since a pilot study was initiated in Sapporo in 1982. The incidence of 21-hydroxylase deficiency in Japan is about 1/18,000 persons, which is similar ...

Newborn screening is the largest genetic screening program in the United States with approximately four million newborns screened yearly. It has been available and in continuous development for more than 50 years. Each state manages, funds, and maintains its own individual program, which encompasses newborn screening as well as the ...

To find the optimal transcutaneous bilirubin (TcB) screening level in term neonates that minimizes the discomfort of phlebotomy, while protecting the child from harm and controlling costs. All available TcB and total serum bilirubin (TSB) measurements taken between 27 and 51 hours of life from a cohort of term newborns ...

Purpose:Sickle cell disease is estimated to occur in 1:300-400 African-American births, with higher rates among immigrants from Africa and the Caribbean, and is less common among Hispanic births. This study determined sickle cell disease incidence among New York State newborns stratified by maternal race/ethnicity and nativity.Methods:Newborns with confirmed sickle cell ...

Objectives To estimate, by neonatal screening, the birth prevalence of congenital toxoplasmosis among live-born infants in Sergipe state, Brazil, and to investigate the clinical features of affected infants. Methods Dried blood spot specimens obtained from 15 204 neonates were assayed for the presence of anti-T. gondii IgM antibodies. Duplicate retesting was done ...

BACKGROUND: Sickle cell disease (SCD) is the commonest haemoglobinopathy in Africa, the Middle East and India. In recent years, its incidence has increased dramatically also in Europe and North America because of the high rate of migration of people from endemic areas. From January 2009 to January 2010 the number ...

BACKGROUND AND OBJECTIVES:Despite the implementation of screening guidelines to identify infants at risk for hyperbilirubinemia, chronic bilirubin encephalopathy (CBE) continues to be reported worldwide in otherwise healthy infants. The incidence of CBE in Canada is unknown. The objectives of this study were to establish the incidence of CBE in Canada ...

OBJECTIVES: Newborn hearing screening has been successfully implemented in cities of China, but not in rural areas. This study aimed to provide guidance on implementing hearing screening in the rural areas of China. METHODS: Subjects were 11,568 babies who were born in 5 counties of Hubei Province of China. Hearing ...

Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran. The Iranian neonatal ...

To investigate the prevalence of congenital hypothyroidism (CH) among neonates in East Azerbaijan, Iran. A cross-sectional study conducted from 2009 to 2010. Most heel blood samples were taken between three and seven days of birth. Thyroid stimulating hormone (TSH) was tested using the enzyme-linked immunosorbent assay method. Neonates with abnormal ...

Extremely preterm (EP) infants screen positive for autism spectrum disorders (ASD) at high rates. However, it is not clear whether this is because of high rates of ASD in EPs or to high rates of false-positive screens for ASD in children with a high rate of underlying neurodevelopmental impairments. Combining ...

During eleven months all preterm infants admitted to our neonatal care facility with suspected respiratory tract infection were screened for respiratory viruses by PCR. Rhinovirus infection was identified in 16 infants, leading to severe respiratory compromise in most cases. Distribution of rhinovirus infections during the year showed a strong clustering ...

This study investigated the incidence of retinopathy of prematurity (ROP) and its risk factors in a tertiary referral hospital in Taiwan to evaluate the applicability of the ROP screening guidelines published by the American Academy of Pediatrics, American Academy of Ophthalmology, and American Association for Pediatric Ophthalmology and Strabismus in ...

To determine the incidence of transient and permanent hypothyroidism in Babol, Iran. The cross sectional study on 10,573 newborns who participated in a thyroid screening program in Babol between 2006 and 2008 was performed. It recalled patients who had been diagnosed in the initial screening program and treated for at ...

Identify trends of enrolment and key challenges when recruiting infants with complex cardiac diseases into a multi-centre, randomised, placebo-controlled drug trial and assess the impact of efforts to share successful strategies on enrolment of subjects. Rates of screening, eligibility, consent, and randomisation were determined for three consecutive periods of time. ...

Developmental Dysplasia of the Hip (DDH) is the most common notifiable musculoskeletal birth defect in South Australia (SA). Despite routine screening by physical examination of the hips in the neonatal period and at 6 weeks of age, the risk of late diagnosis is increased in rural areas. It is assumed ...

Toxoplasma gondii is an unicellular coccidian parasite with worldwide distribution. It is estimated that more than a third of the world's population has been infected with the parasite, but seroprevalence is unevenly distributed across countries and different socioeconomic strata. The majority of newborns with congenital toxoplasmosis do not have any ...

Aim: Infants with viral bronchiolitis are often hospitalised with a proportion requiring respiratory support. The aim of this review was to examine the use of nasal prong continuous positive airway pressure (CPAP) as a management strategy for infants with a diagnosis of bronchiolitis, who required stabilisation and transport to a ...

This study was designed to determine the frequency of retinopathy of prematurity (ROP) and the effectiveness of the screening protocol in preterm infants for our country. With these objectives, the charts of 1000 preterm infants were reviewed in Ondokuz Mayis University, Department of Ophthalmology. ROP frequency, the effect of gestational ...

Respiratory distress is recognised as any signs of breathing difficulties in neonates. In the early neonatal period respiratory distress is common, occurring in up to 7% of newborn infants, resulting in significant numbers of term-born infants being admitted to neonatal units. Many risk factors are involved; the increasing number of ...

Retinopathy of prematurity (RoP) is a retinal vascular disease and a frequent cause of blindness in infants. Our objective was to measure the frequency of RoP in infants with extremely low birth weight (ELBW, < 1,000 g) at the National Institute of Perinatology, Neonatal Intensive Care Unit (NICU), weighing the ...

Staphylococcus aureus infections are increasing among pregnant and postpartum women and neonates, but risk factors for S. aureus colonization in pregnancy and the association between maternal colonization and infant infections are not well defined. We sought to identify risk factors for maternal S. aureus rectovaginal colonization and assess colonization as ...

Congenital syphilis is a severe, disabling infection often with grave consequences seen in infants. It occurs due to the transmission of the disease from an infected mother to the unborn infant through the placenta. This long forgotten disease continues to affect pregnant women resulting in perinatal morbidity and mortality. The ...

When diagnosed through neonatal screening and treated promptly and adequately, infants with congenital hypothyroidism (CH) experience normal physical growth and neurological development. Here we present a 3-year-old boy diagnosed with CH as a newborn, who was subsequently left untreated and experienced significant growth failure and developmental delay. This case emphasizes ...

Hazelnut (Corylus avellana) allergy exhibits age and geographically distinct sensitization patterns that have not yet been fully resolved. To study sensitization to Cor a 11 in different age groups of hazelnut-allergic patients and infants with atopic dermatitis (AD) sensitized to hazelnut in a birch-endemic region. Sera from 80 hazelnut-allergic patients, ...

Holoprosencephaly is a rare malformation encountered in newborns. It refers to the absent or incomplete division of the prosencephalon.Case no. 1: a fetus was diagnosed by ultrasonogram at 29 weeks of gestation with alobar holoprosencephaly, proboscis and cyclopia. The premature infant was delivered by cesarean section at 32 weeks of ...

Biliary Atresia (BA), a result from inflammatory destruction of the intrahepatic and extrahepatic bile ducts, is a severe hepatobiliary disorder unique to infancy. Early diagnosis and Kasai operation greatly improve the outcome of BA patients, which encourages the development of early screening methods. Using HPLC coupled tandem mass spectrometry, we ...

Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden death. MCAD deficiency usually presents around three to six months of life, ...

► 33 years old woman diagnosed with choriocarcinoma after delivery, her newborn son with the same diagnosis. ► Case of transplasental dissemination of choriacarcinoma. ► Advanced disease both in the mother and the infant.

Infant asphyxia is a condition due to insufficient oxygen intake suffered by newborn babies. A 4 to 9 million occurrences of infant asphyxia are reported each year by WHO. Early diagnosis of asphyxia is important to avoid complications such as damage to the brain, organ and tissue that could lead ...

This study was aimed to evaluate the situation of congenital hypothyroidism (CH) in Guilan using the screening program and determine the correlation of CH with birth weight, gestational age and seasonality. During 2006 to 2010, in Guilan province, neonatal screening for CH by measurement of serum TSH level was performed ...

Neonatal bacterial meningitis is associated with high morbidity and mortality, especially when complicated by intracranial abscesses. The authors report the case of an 11-day-old female with Proteus mirabilis meningitis complicated by an asymptomatic brain abscess. With this report, the authors illustrate the importance of surveillance neuroradiologic imaging in patients with ...

The IRT screening test for the use in diagnosing newborns with CF has a high sensitivity but is not very specific resulting in a large number of screened positive infants found to have a normal sweat test. The aim of this study was to analyze the differences in b-IRT levels ...

Congenital heart disease (CHD) is the most common congenital anomaly in newborns. The aim of this longitudinal, hospital-based study was to evaluate the prevalence and pattern of CHD among Iranian newborns in Gorgan, Northern Iran. 11739 live births in Dezyani hospital in Gorgan were screened for CHD, 2007 through 2008. ...

A 47-day-old male infant presented with fever, poor oral intake, irritability, and right-sided bluish buccal swelling. Contrast-enhanced computed tomography of the neck showed a round mass lesion of about 2.0×1.5 cm that suggested abscess formation in the right masticator space. Ultrasound-guided extraoral aspiration of the abscess at the right masseter ...

BACKGROUND: In the first months of life the subcortical white matter appears prone to fluid accumulation and cystic change. This condition has generally been considered to be due to hypoxic-ischaemic injury (HII) and is grouped with other forms of white matter disease including periventricular leucomalacia (PVL). AIMS: Our aim was ...

To evaluate the correlation between glucose-6-phosphate-dehydrogenase (G6PD) deficiency and neonatal jaundice. Prospective, observational case-control study was conducted on 490 newborns admitted to Hospital de Clínicas de Porto Alegre for phototherapy, who all experienced 35 or more weeks of gestation, from March to December 2007. Enzymatic screening of G6PD activity was ...

Studies among ethnic minorities suggest that prenatal care (PNC) may be less protective against preterm birth (PTB) among foreign-born relative to US-born mothers. We assessed relations between nativity, PNC inadequacy, and PTB risk over 17 years in one US state. Adjusted multivariable models were fit to assess the potential interaction between ...

Background West syndrome (WS), an age-specific epilepsy of infancy and early childhood, considered of poor prognosis, may have remission. With the objective of describing the clinical features, treatment and outcome of the children with WS followed in a Latin American country, we devised a retrospective study. Methods Infants with recurrent ...

Reports of leprosy during the first year of life are uncommon. In the early diagnosis, the spectrum for most of the children is reported to be largely confined to tuberculoid (TT), borderline tuberculoid (BT), mid-borderline (BB), and indeterminate forms of leprosy. We report a one-year-old female infant presenting numerous erythematous ...